Rare Diseases under letter "S"
Saal-Greenstein syndrome ↗ Saccharopine dehydrogenase deficiency ↗ Saccharopinuria ↗ Sack-Barabas syndrome ↗ Sacral agenesis syndrome ↗ Sacral hemangiomas - multiple congenital abnormalities ↗ Sacral meningocele - conotroncal heart defects ↗ Sacral regression syndrome ↗ Sacrococcygeal dysgenesis association ↗ SADDAN ↗ Saethre-Chotzen syndrome ↗ Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis ↗ Saguenay-Lac-St. Jean cytochrome oxidase deficiency ↗ Saito-Kuba-Tsuruta syndrome ↗ Sakati-Nyhan syndrome ↗ Sakati-Nyhan-Tisdale syndrome ↗ Sakati syndrome ↗ Salamon syndrome ↗ Salcedo syndrome ↗ Saldino-Mainzer syndrome ↗ Salivary gland type cancer of the breast ↗ Salivary gland type carcinoma of the breast ↗ Salla disease ↗ Salmonellosis ↗ Salti-Salem syndrome ↗ SAMS 1-31 ↗ Sandhoff disease ↗ Sandifer syndrome ↗ SANDO ↗ Sandrow syndrome ↗ Sanfilippo disease ↗ Sanfilippo syndrome type A ↗ Sanfilippo syndrome type B ↗ Sanfilippo syndrome type C ↗ Sanfilippo syndrome type D ↗ Sanjad-Sakati syndrome ↗ San Joaquin valley fever ↗ San Luis Valley syndrome ↗ Santavuori disease ↗ Santavuori disease ↗ Santavuori-Haltia disease ↗ Santos-Mateus-Leal syndrome ↗ SAOA ↗ SAPHO syndrome ↗ Sarcocystosis ↗ Sarcoidosis ↗ Sarcosine dehydrogenase complex deficiency ↗ Sarcosinemia ↗ Sarcosporidiosis ↗ SARS ↗ SARS-associated corona virus ↗ SARS-CoV ↗ Satoyoshi syndrome ↗ Say-Barber-Hobbs syndrome ↗ Say-Barber-Miller syndrome ↗ Say-Field-Coldwell syndrome ↗ Say-Meyer syndrome ↗ SBCAD deficiency ↗ SBMA ↗ SCA1 ↗ SCA10 ↗ SCA11 ↗ SCA12 ↗ SCA13 ↗ SCA14 ↗ SCA15 ↗ SCA16 ↗ SCA17 ↗ SCA18 ↗ SCA19 ↗ SCA2 ↗ SCA20 ↗ SCA21 ↗ SCA22 ↗ SCA23 ↗ SCA25 ↗ SCA26 ↗ SCA27 ↗ SCA28 ↗ SCA29 ↗ SCA3 ↗ SCA30 ↗ SCA31 ↗ SCA32 ↗ SCA35 ↗ SCA36 ↗ SCA4 ↗ SCA5 ↗ SCA6 ↗ SCA7 ↗ SCA8 ↗ SCAD deficiency ↗ SCAE ↗ Scalp defects - postaxial polydactyly ↗ Scalp-ear-nipple syndrome ↗ SCAN1 ↗ SCAN 2 ↗ Scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit ↗ Scapuloiliac dysostosis ↗ Scapuloperoneal amyotrophy ↗ SCAR1 ↗ SCARF syndrome ↗ Scarring in glaucoma filtration surgical procedures ↗ SCASI ↗ SCAX1 ↗ SCD ↗ Schaap-Taylor-Baraitser syndrome ↗ SCHAD deficiency ↗ Scheie syndrome ↗ Schilbach-Rott syndrome ↗ Schilder disease ↗ Schilder's disease ↗ Schimke immuno-osseous dysplasia ↗ Schimke syndrome ↗ Schimmelpenning syndrome ↗ Schindler disease type 1 ↗ Schindler disease type 2 ↗ Schindler disease type 3 ↗ Schinzel-Giedion syndrome ↗ Schinzel syndrome ↗ Schisis association ↗ Schistosomiasis ↗ Schizencephaly ↗ Schizophrenia - intellectual deficit - deafness - retinitis ↗ Schmidt syndrome ↗ Schmitt-Gillenwater-Kelly syndrome ↗ Schneckenbecken dysplasia ↗ Schnitzler syndrome ↗ Schnyder's crystalline corneal dystrophy ↗ Schofer-Beetz-Bohl syndrome ↗ Scholte-Begeer-van Essen syndrome ↗ Schopf-Schulz-Passarge syndrome ↗ Schwannomatosis ↗ Schwannome vestibulaire ↗ Schwartz-Jampel-Aberfeld syndrome ↗ Schwartz-Jampel syndrome ↗ Schwartz-Jampel syndrome type 1 ↗ SCID ↗ SCID, alymphocytotic type ↗ SCID, Athabaskan type ↗ SCID due to CORO1A deficiency ↗ SCID due to coronin-1A deficiency ↗ SCID due to DOCK8 deficiency ↗ SCID due to LCK deficiency ↗ SCID due to lymphocyte-specific protein tyrosine kinase deficiency ↗ SCID T+ B+ due to partial RAG1 deficiency ↗ SCIDX1 ↗ Scimitar syndrome ↗ SCLC ↗ Scleroatonic muscular dystrophy ↗ Scleroatrophic syndrome ↗ Scleroderma ↗ Scleromyxedema ↗ Scleromyxedema without monoclonal gammopathy ↗ Sclerosing dysplasia of bone - ichthyosis - premature ovarian failure ↗ Sclerosing mediastinitis ↗ Sclerosing mesenteritis ↗ Sclerosing perineurioma ↗ Sclerosteosis ↗ SCOT deficiency ↗ Scott-Bryant-Graham syndrome ↗ Scott craniodigital syndrome ↗ Scott syndrome ↗ Scott-Taor syndrome ↗ SC phocomelia ↗ SC pseudothalidomide syndrome ↗ SCRA ↗ Scrotal or penoscrotal hypospadias ↗ Scrub typhus ↗ SD3 ↗ SD5 ↗ SDHx-related paraganglioma-pheochromocytoma ↗ SDS ↗ SDYS ↗ Sea-blue histiocytosis ↗ Seaver-Cassidy syndrome ↗ Sebastian syndrome ↗ Sebocystomatosis ↗ Seborrhea-like dermatitis with psoriasiform elements ↗ Seckel syndrome ↗ Secondary acute transverse myelitis ↗ Secondary amyloidosis ↗ Secondary ciliary dyskinesia ↗ Secondary intestinal lymphangiectasia ↗ Secondary non-tropical sprue ↗ Secondary pulmonary hemosiderosis ↗ Secondary retention of permanent molars ↗ Secondary short bowel syndrome ↗ Secondary syringomyelia ↗ Second branchial cleft anomaly ↗ Second branchial cleft cyst ↗ Second branchial cleft fistula ↗ SED-BDS ↗ SEDC ↗ Sedlackova syndrome ↗ Seemanova-Lesny syndrome ↗ Seemanova syndrome type 2 ↗ SEGA ↗ Segawa syndrome ↗ Seghers syndrome ↗ Segmental odontomaxillary dysplasia ↗ Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus ↗ Segmental vertebral anomalies ↗ SEI ↗ Seitelberger disease ↗ Seizures - intellectual deficit due to hydroxylysinuria ↗ Seizures - sensorineural deafness - ataxia - intellectual deficit - electrolyte imbalance ↗ Selective cobalamin malabsorption with proteinuria ↗ Selective IgG subclass deficiency ↗ Selective pituitary resistance to thyroid hormone ↗ Self-healing collodion baby ↗ Self-healing papular mucinosis ↗ Self-healing squamous epithelioma type 1 ↗ Selig-Benacerraf-Greene syndrome ↗ Sellars-Beighton syndrome ↗ Semantic dementia ↗ Semantic primary progressive aphasia ↗ Semantic variant PPA ↗ SEMD, aggrecan type ↗ SEMD, Irapa type ↗ SEMDJL ↗ SEMD, MATN3-related ↗ SEMD, matrilin-3 type ↗ SEMD-MD ↗ SEMD, Missouri type ↗ SEMD, Shohat type ↗ SEMD type 2 ↗ SEMD type Irapa ↗ Semilobar holoprosencephaly ↗ Senear-Usher syndrome ↗ Sengers-Hamel-Otten syndrome ↗ Sengers syndrome ↗ Senior-Boichis syndrome ↗ Senior-Loken syndrome ↗ Senior syndrome ↗ Sensenbrenner syndrome ↗ Sensorineural deafness with dilated cardiomyopathy ↗ Sensorineural hearing loss - early greying - essential tremor ↗ Sensorineural hearing loss - pontobulbar palsy ↗ Sensorineural hearing loss with dilated cardiomyopathy ↗ Sensory ataxic neuropathy - dysarthria - ophthalmoparesis ↗ Sensory neuropathy - spastic paraplegia ↗ Senter syndrome ↗ Sepsis in premature infants ↗ Sepsis postanginal of Lemierre ↗ Septate vagina ↗ Septic phlebitis of the internal jugular vein ↗ Septo-optic dysplasia ↗ Septooptic dysplasia - digital anomalies ↗ Septo-optic dysplasia spectrum ↗ Septopreoptic holoprosencephaly ↗ Septopreoptic HPE ↗ Serine deficiency ↗ SERKAL syndrome ↗ Serotonergic syndrome ↗ Serotonin storm ↗ Serotonin syndrome ↗ Serotonin toxicity ↗ Serotonin toxidrome ↗ Serous or mucinous cystadenoma of childhood ↗ Serous surface papillary carcinoma ↗ Serpentine fibula - polycystic kidneys ↗ Serpiginous choroiditis ↗ Servelle-Martorell syndrome ↗ SeSAME syndrome ↗ Setleis syndrome ↗ Severe achondroplasia - developmental delay - acanthosis nigricans ↗ Severe acute respiratory syndrome ↗ Severe closed traumatic brain injury ↗ Severe combined immunodeficiency ↗ Severe combined immunodeficiency, alymphocytotic type ↗ Severe combined immunodeficiency, Athabaskan type ↗ Severe combined immunodeficiency due to adenosine deaminase deficiency ↗ Severe combined immunodeficiency due to CORO1A deficiency ↗ Severe combined immunodeficiency due to coronin-1A deficiency ↗ Severe combined immunodeficiency due to CRAC channel dysfunction ↗ Severe combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency ↗ Severe combined immunodeficiency due to DOCK8 deficiency ↗ Severe combined immunodeficiency due to LCK deficiency ↗ Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency ↗ Severe combined immunodeficiency - microcephaly - growth retardation - sensitivity to ionizing radiation ↗ Severe combined immunodeficiency T- B+ due to CD3delta/CD3epsilon/CD3zeta ↗ Severe combined immunodeficiency T- B+ due to CD45 deficiency ↗ Severe combined immunodeficiency T- B+ due to gamma chain deficiency ↗ Severe combined immunodeficiency T- B+ due to IL-7Ralpha deficiency ↗ Severe combined immunodeficiency T- B+ due to JAK3 deficiency ↗ Severe combined immunodeficiency T+ B+ due to partial RAG1 deficiency ↗ Severe combined immunodeficiency T- B+, X-linked ↗ Severe combined immunodeficiency with hypereosinophilia ↗ Severe combined immunodeficiency with leukopenia ↗ Severe congenital encephalopathy due to MECP2 mutation ↗ Severe congenital nemaline myopathy ↗ Severe congenital neutropenia ↗ Severe dilated cardiomyopathy due to lamin A/C mutation ↗ Severe dilated cardiomyopathy with or without myopathy ↗ Severe dystrophinopathy, Duchenne and Becker type ↗ Severe dystrophinopathy, Duchenne type ↗ Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency ↗ Severe early-onset axonal neuropathy due to NEFL deficiency ↗ Severe factor IX deficiency ↗ Severe factor VIII deficiency ↗ Severe familial hypospadias ↗ Severe Hallermann-Streiff-François syndrome ↗ Severe hemophilia A ↗ Severe hemophilia B ↗ Severe hypospadias ↗ Severe immune-mediated enteropathy ↗ Severe intellectual deficit and progressive spastic paraplegia ↗ Severe intellectual deficit - epilepsy - anal anomalies - distal phalangeal hypoplasia ↗ Severe limb deficit ↗ Severe lipodystrophic laminopathy ↗ Severe myoclonic epilepsy of infancy ↗ Severe neonatal-onset encephalopathy with microcephaly ↗ severe PMD ↗ Severe T-cell immunodeficiency - congenital alopecia - nail dystrophy ↗ Severe X-linked intellectual deficit, Gustavson type ↗ Severe X-linked mitochondrial encephalomyopathy ↗ Sex reversion - kidneys, adrenal and lung dysgenesis ↗ Sezary's lymphoma ↗ Sezary's syndrome ↗ SGBS ↗ SGBS1 ↗ SGBS2 ↗ SGLT1 deficiency ↗ SGLT2 deficiency ↗ SGS ↗ Shah-Waardenburg syndrome ↗ Shapiro syndrome ↗ Sharma-Kapoor-Ramji syndrome ↗ Sharp syndrome ↗ SHCB ↗ Sheehan syndrome ↗ Sheldon-Hall syndrome ↗ SHFLD syndrome ↗ SHFM ↗ SHFM associated with aplasia of long bones ↗ Shiga-like toxin-associated HUS ↗ Shigellosis ↗ SHML ↗ Shokeir syndrome ↗ Shone complex ↗ Short arm of chromosome 18 duplication ↗ Short arm of chromosome 18 trisomy ↗ Short arm of chromosome 4 trisomy ↗ Short arm of chromosome 5 trisomy ↗ Short arm of chromosome 9 duplication ↗ Short arm of chromosome 9 trisomy ↗ Short bowel syndrome due to necrotizing enterocolitis ↗ Short bowel syndrome due to surgical resection ↗ Short bowel syndrome due to thrombosis ↗ Short bowel syndrome due to total or sub-total aganglionosis ↗ Short bowel syndrome due to trauma ↗ Short bowel syndrome due to volvulus ↗ Short/branched-chain acyl-coA dehydrogenase deficiency ↗ Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency ↗ Short chain Acyl-CoA dehydrogenase deficiency ↗ Short fifth metacarpals - insulin resistance ↗ Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing ↗ Short limb-dwarf lethal, McAlister-Crane type ↗ Short rib-polydactyly syndrome ↗ Short rib-polydactyly syndrome, Beemer-Langer type ↗ Short rib-polydactyly syndrome, Majewski type ↗ Short rib-polydactyly syndrome, Saldino-Noonan type ↗ Short rib-polydactyly syndrome type 1 ↗ Short rib-polydactyly syndrome type 2 ↗ Short rib-polydactyly syndrome type 3 ↗ Short rib-polydactyly syndrome type 4 ↗ Short rib-polydactyly syndrome, Verma-Naumoff type ↗ Short stature, Brussels type ↗ Short stature - contractures - hypotonia ↗ Short stature - craniofacial anomalies - genital hypoplasia ↗ Short stature - deafness - neutrophil dysfunction - dysmorphism ↗ Short stature-delayed bone age due to thyroid hormone metabolism deficiency ↗ Short stature due to growth hormone qualitative anomaly ↗ Short stature due to growth hormone resistance ↗ Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia ↗ Short stature due to primary acid-labile subunit deficiency ↗ Short stature due to STAT5b deficiency ↗ Short stature - facial and skeletal anomalies - intellectual deficit - macrodontia ↗ Short stature - heart defect - craniofacial anomalies ↗ Short stature - hyperkaliemia - acidosis ↗ Short stature - intellectual deficit - eye anomalies - cleft lip/palate ↗ Short stature - intellectual deficit - eye defects - absent patella ↗ Short stature - locking fingers ↗ Short stature - microcephaly - heart defect ↗ Short stature of unknown aetiology ↗ Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot ↗ Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot ↗ Short stature - pituitary and cerebellar defects - small sella turcica ↗ Short stature - prognathism - short femoral necks ↗ Short stature - valvular heart disease - characteristic facies ↗ Short stature - webbed neck - heart disease ↗ Short stature - wormian bones - dextrocardia ↗ SHORT syndrome ↗ Short tarsus - absence of lower eyelashes ↗ Short tendo calcaneus ↗ Shoulder and girdle defects - familial intellectual deficit ↗ Shoulder and thorax deformity - congenital heart disease ↗ Shprintzen-Goldberg syndrome ↗ Shprintzen syndrome ↗ Shulman syndrome ↗ Shwachman-Diamond syndrome ↗ Shy-Drager syndrome ↗ SIADH ↗ Sialidosis type 1 ↗ Sialidosis type 2 ↗ Sialuria, French type ↗ SIBIDS syndrome ↗ Sickle cell anemia ↗ Sickle cell - beta-thalassemia disease ↗ Sickle cell disease ↗ Sickle cell - hemoglobin C disease ↗ Sickle cell - hemoglobin D disease ↗ Sickle cell - hemoglobin E disease ↗ Sickness of disembarkment ↗ Sick sinus syndrome ↗ SIDDT ↗ Sideropenic dysphagia ↗ Sidransky-Feinstein-Goodman syndrome ↗ Siegler-Brewer-Carey syndrome ↗ Siewert syndrome ↗ Silent sinus syndrome ↗ Sillence syndrome ↗ Silver-Russell dwarfism ↗ Silver-Russell syndrome ↗ Silver-Russell syndrome due to 11p15 microduplication ↗ Silver-Russell syndrome due to 7p11.2p13 microduplication ↗ Silver-Russell syndrome due to 7p11.2-p13 microduplication ↗ Silver-Russell syndrome due to dup(7)(p11.2p13) ↗ Silver-Russell syndrome due to imprinting defect of 11p15 ↗ Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 ↗ Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 ↗ Silver-Russell syndrome due to trisomy 7p11.2p13 ↗ Silver-Russell syndrome due to trisomy 7p11.2-p13 ↗ Silver staining ↗ Silver Syndrome ↗ Simosa-Penchaszadeh-Bustos syndrome ↗ Simple cryoglobulinemia ↗ Simpson dysmorphia syndrome ↗ Simpson-Golabi-Behmel syndrome ↗ Simpson-Golabi-Behmel syndrome type 1 ↗ Simpson-Golabi-Behmel syndrome type 2 ↗ Sinding-Larsen-Johansson disease ↗ Singh-Chhaparwal-Dhanda syndrome ↗ Singh-Williams-McAlister syndrome ↗ Singleton-Merten dysplasia ↗ Singleton-Merten syndrome ↗ Single upper central incisor ↗ Single ventricular septal defect ↗ Sino-auricular heart block ↗ Sinus histiocytosis with massive lymphadenopathy ↗ Sinus node disease - myopia ↗ Sinus node dysfunction ↗ Sinusoidal obstruction syndrome ↗ Sipple syndrome ↗ Sipple syndrome type A ↗ Sipple syndrome type B ↗ Sirenomelia ↗ Sitosterolemia ↗ Situs ambiguous ↗ Situs ambiguus ↗ Situs inversus ↗ Situs inversus totalis ↗ Sjögren-Larsson syndrome ↗ SJS ↗ SJS1 ↗ SJS-TEN ↗ Skeletal dysplasia - brachydactyly ↗ Skeletal dysplasia - epilepsy - short stature ↗ Skeletal dysplasia, Greenberg type ↗ Skeletal dysplasia - intellectual deficit ↗ Skeletal dysplasia, Jequier-kozlowski type ↗ Skeletal dysplasia - orofacial anomalies ↗ Skeletal dysplasia, San Diego type ↗ Skeletal dysplasia with wormian bone - multiple fractures - dentin abnormality ↗ Skin infectious botulism ↗ Skin toxin-mediated botulism ↗ Sleeping seekness ↗ SLE, pediatric onset ↗ SLK ↗ SLOS ↗ SLSJ-COX deficiency ↗ Sly disease ↗ SMA ↗ SMA1 ↗ SMA2 ↗ SMA3 ↗ SMA4 ↗ SMA-I ↗ SMA-II ↗ SMA-III ↗ SMA-IV ↗ Small bowel adenocarcinoma ↗ Small bowel leiomyosarcoma ↗ Small cell lung cancer ↗ Small non-cleaved cell lymphoma ↗ Small patella syndrome ↗ SMARD ↗ SMAX2 ↗ SMD-CRD ↗ SMEI ↗ Smith-Fineman-Myers syndrome ↗ Smith-Lemli-Opitz syndrome ↗ Smith-Magenis syndrome ↗ Smith-McCort dysplasia ↗ SMMCI ↗ Sneddon syndrome ↗ Sneddon-Wilkinson disease ↗ Snowflake vitreoretinal degeneration ↗ Snyder-Robinson syndrome ↗ SOD ↗ SOD ↗ Sodoku ↗ Soft tissu perineurioma ↗ Sohval-Soffer syndrome ↗ SOLAMEN syndrome ↗ Solar urticaria ↗ Solitary bone cyst ↗ Solitary mastocytoma ↗ Solitary median maxillary central incisor syndrome ↗ Solitary necrotic tumor of the liver ↗ Solitary plasmacytoma ↗ Solitary rectal ulcer syndrome ↗ Solomon syndrome ↗ Somatostatinoma ↗ Sommer-Hines syndrome ↗ Sommer-Rathbun-Battles syndrome ↗ Sommer-Young-Wee-Frye syndrome ↗ Sondheimer syndrome ↗ Sonoda syndrome ↗ Sorsby's fundus dystrophy ↗ Sorsby syndrome ↗ Sotos syndrome ↗ Southeast asian ovalocytosis ↗ Sparse hair - short stature - skin anomalies ↗ Spasmodic dysphonia ↗ Spasmodic torticollis ↗ Spasmus nutans ↗ Spastic ataxia, Charlevoix-Saguenay type ↗ Spastic ataxia - corneal dystrophy ↗ Spastic ataxia - ocular anomalies ↗ Spastic ataxia with congenital miosis ↗ Spastic diplegia, infantile type ↗ Spastic gait type 2 ↗ Spasticity - intellectual deficit - X-linked epilepsy ↗ Spastic paraparesis ↗ Spastic paraparesis - amyopathy - cataracts - gastroesophageal reflux ↗ Spastic paraparesis - deafness ↗ Spastic paraparesis - vitiligo - premature graying - characteristic facies ↗ Spastic paraplegia-amyotrophy of hands and feet ↗ Spastic paraplegia due to neuropathy target esterase mutation ↗ Spastic paraplegia due to NTE mutation ↗ Spastic paraplegia - epilepsy - intellectual deficit ↗ Spastic paraplegia - facial-cutaneous lesions ↗ Spastic paraplegia - glaucoma - intellectual deficit ↗ Spastic paraplegia - intellectual deficit - thin corpus callosum ↗ Spastic paraplegia - nephritis - deafness ↗ Spastic paraplegia - neuropathy - poikiloderma ↗ Spastic paraplegia - precocious puberty ↗ Spastic paraplegia - retinal degeneration ↗ Spastic paraplegia type 2 ↗ Spastic quadriplegia - retinitis pigmentosa - intellectual deficit ↗ Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells ↗ Speech and language disorder with orofacial dyspraxia ↗ Speech-language disorder type 1 ↗ Spellacy-Gibbs-Watts syndrome ↗ SPENCD ↗ Spermatocytic seminoma ↗ SPG ↗ SPG1 ↗ SPG10 ↗ SPG11 ↗ SPG12 ↗ SPG13 ↗ SPG14 ↗ SPG15 ↗ SPG16 ↗ SPG17 ↗ SPG18 ↗ SPG19 ↗ SPG2 ↗ SPG20 ↗ SPG21 ↗ SPG23 ↗ SPG24 ↗ SPG25 ↗ SPG26 ↗ SPG27 ↗ SPG28 ↗ SPG29 ↗ SPG30 ↗ SPG31 ↗ SPG32 ↗ SPG34 ↗ SPG35 ↗ SPG37 ↗ SPG38 ↗ SPG39 ↗ SPG3A ↗ SPG4 ↗ SPG42 ↗ SPG5A ↗ SPG6 ↗ SPG7 ↗ SPG8 ↗ SPG9 ↗ Spherocytic elliptocytosis ↗ Spheroid body myopathy ↗ Spherophakia - brachymorphia ↗ Sphingomyelinase deficiency ↗ Spielmeyer-Vogt disease ↗ Spina bifida aperta ↗ Spina bifida cystica ↗ Spina bifida - hypospadias ↗ Spinal and bulbar muscular atrophy ↗ Spinal arteriovenous malformation ↗ Spinal arteriovenous metameric syndrome ↗ Spinal atrophy - ophthalmoplegia - pyramidal syndrome ↗ Spinal cord injury ↗ Spinal muscular atrophy, adult form ↗ Spinal muscular atrophy - Dandy-Walker complex - cataracts ↗ Spinal muscular atrophy with arthrogryposis ↗ Spinal muscular atrophy with respiratory distress ↗ Spindle cell hemangioendothelioma ↗ Spindle cell hemangioma ↗ Spinocerebellar ataxia - amyotrophy - deafness ↗ Spinocerebellar ataxia - dysmorphism ↗ Spinocerebellar ataxia type 1 ↗ Spinocerebellar ataxia type 10 ↗ Spinocerebellar ataxia type 11 ↗ Spinocerebellar ataxia type 12 ↗ Spinocerebellar ataxia type 13 ↗ Spinocerebellar ataxia type 14 ↗ Spinocerebellar ataxia type 15 ↗ Spinocerebellar ataxia type 16 ↗ Spinocerebellar ataxia type 17 ↗ Spinocerebellar ataxia type 18 ↗ Spinocerebellar ataxia type 19 ↗ Spinocerebellar ataxia type 1 with axonal neuropathy ↗ Spinocerebellar ataxia type 2 ↗ Spinocerebellar ataxia type 20 ↗ Spinocerebellar ataxia type 21 ↗ Spinocerebellar ataxia type 22 ↗ Spinocerebellar ataxia type 23 ↗ Spinocerebellar ataxia type 25 ↗ Spinocerebellar ataxia type 26 ↗ Spinocerebellar ataxia type 27 ↗ Spinocerebellar ataxia type 28 ↗ Spinocerebellar ataxia type 29 ↗ Spinocerebellar ataxia type 3 ↗ Spinocerebellar ataxia type 30 ↗ Spinocerebellar ataxia type 31 ↗ Spinocerebellar ataxia type 32 ↗ Spinocerebellar ataxia type 35 ↗ Spinocerebellar ataxia type 36 ↗ Spinocerebellar ataxia type 4 ↗ Spinocerebellar ataxia type 5 ↗ Spinocerebellar ataxia type 6 ↗ Spinocerebellar ataxia type 8 ↗ Spinocerebellar ataxia with axonal neuropathy type 2 ↗ Spinocerebellar ataxia with epilepsy ↗ Spinocerebellar degeneration - corneal dystrophy ↗ Spirillary rat-bite fever ↗ Spitzer-Weinstein syndrome ↗ Splenic marginal zone lymphoma ↗ Splenogonadal fusion - limb defects - micrognathia ↗ Split foot deformity - mandibulofacial dysostosis ↗ Split hand foot malformation ↗ Split-hand/foot malformation associated with aplasia of long bones ↗ Split hand/foot malformation with long bone deficiency ↗ Split hand - split foot ↗ Split hand - split foot - deafness ↗ Split hand/split foot - mandibular hypoplasia ↗ Split hand/split foot - nystagmus ↗ Split hand - urinary anomalies - spina bifida ↗ Split notochord syndrome ↗ SPONASTRIME dysplasia ↗ Spondylocamptodactyly syndrome ↗ Spondylocarpotarsal synostosis ↗ Spondylocostal dysostosis - anal and genitourinary malformations ↗ Spondyloenchondrodysplasia ↗ Spondyloenchondromatosis ↗ Spondyloepimetaphyseal dysplasia - abnormal dentition ↗ Spondyloepimetaphyseal dysplasia, aggrecan type ↗ Spondyloepimetaphyseal dysplasia, anauxetic type ↗ Spondyloepimetaphyseal dysplasia, Bieganski type ↗ Spondyloepimetaphyseal dysplasia congenita, Strudwick type ↗ Spondyloepimetaphyseal dysplasia, Genevieve type ↗ Spondyloepimetaphyseal dysplasia, Handigodu type ↗ Spondyloepimetaphyseal dysplasia - hypotrichosis ↗ Spondyloepimetaphyseal dysplasia, Irapa type ↗ Spondyloepimetaphyseal dysplasia, matrilin-3 type ↗ Spondyloepimetaphyseal dysplasia, Menger type ↗ Spondyloepimetaphyseal dysplasia, Missouri type ↗ Spondyloepimetaphyseal dysplasia, Pakistani type ↗ Spondyloepimetaphyseal dysplasia, Shohat type ↗ Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification ↗ Spondyloepimetaphyseal dysplasia type 2 ↗ Spondyloepimetaphyseal dysplasia with joint laxity ↗ Spondyloepimetaphyseal dysplasia with multiple dislocations ↗ Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type ↗ Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type ↗ Spondyloepiphyseal dysplasia - brachydactyly - speech disorder ↗ Spondyloepiphyseal dysplasia, Byers type ↗ Spondyloepiphyseal dysplasia, Cantu type ↗ Spondyloepiphyseal dysplasia congenita ↗ Spondyloepiphyseal dysplasia - craniosynostosis - cleft palate - cataract - intellectual deficit ↗ Spondyloepiphyseal dysplasia - craniosynostosis - cleft palate - cataract - mental retardation ↗ Spondyloepiphyseal dysplasia, Kimberley type ↗ Spondyloepiphyseal dysplasia, MacDermot type ↗ Spondyloepiphyseal dysplasia, Maroteaux type ↗ Spondyloepiphyseal dysplasia - myopia - sensorineural deafness ↗ Spondyloepiphyseal dysplasia - nephrotic syndrome ↗ Spondyloepiphyseal dysplasia, Nishimura type ↗ Spondyloepiphyseal dysplasia, Omani type ↗ Spondyloepiphyseal dysplasia - punctate corneal dystrophy ↗ Spondyloepiphyseal dysplasia, Reardon type ↗ Spondyloepiphyseal dysplasia tarda ↗ Spondyloepiphyseal dysplasia tarda, Kohn type ↗ Spondyloepiphyseal dysplasia tarda - progressive arthropathy ↗ Spondylo-humero-femoral dysplasia ↗ Spondylo-megaepiphyseal-metaphyseal dysplasia ↗ Spondylometaphyseal dysplasia, A4 type ↗ Spondylometaphyseal dysplasia, Algerian type ↗ Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism ↗ Spondylometaphyseal dysplasia - cone-rod dystrophy ↗ Spondylometaphyseal dysplasia, 'corner fracture' type ↗ Spondylometaphyseal dysplasia, Golden type ↗ Spondylometaphyseal dysplasia, Kozlowski type ↗ Spondylometaphyseal dysplasia, Schmidt type ↗ Spondylometaphyseal dysplasia, Sedaghatian type ↗ Spondylometaphyseal dysplasia, Sutcliffe type ↗ Spondylometaphyseal dysplasia with combined immunodeficiency ↗ Spondylometaphyseal dysplasia with enchondromatous changes ↗ Spondylometaphyseal dysplasia with severe genu valgum ↗ Spondylo-ocular syndrome ↗ Spondyloperipheral dysplasia - short ulna ↗ Spongy degeneration of central nervous system ↗ Spongy myocardium ↗ Spontaneous periodic hypothermia ↗ Sporadic achalasia ↗ Sporadic adult-onset ataxia of unknown etiology ↗ Sporadic IBSN ↗ Sporadic idiopathic nephrosis ↗ Sporadic idiopathic steroid-resistant nephrotic syndrome ↗ Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy ↗ Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation ↗ Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis ↗ Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis ↗ Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis ↗ Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes ↗ Sporadic inclusion body myositis ↗ Sporadic infantile bilateral striatal necrosis ↗ Sporadic infantile striatonigral necrosis ↗ Sporadic infantile subacute necrotizing encephalopathy ↗ Sporadic Leigh disease ↗ Sporadic Leigh syndrome ↗ Sporadic lymphedema tarda ↗ Sporadic olivopontocerebellar atrophy type 1 ↗ Sporadic OPCA type 1 ↗ Sporadic pheochromocytoma ↗ Sporadic pheochromocytoma/secreting paraganglioma ↗ Sporadic secreting paraganglioma ↗ Sporadic severe hypospadias ↗ Sporotrichosis ↗ Spranger-Wiedemann disease ↗ Sprengel deformity ↗ Spring catarrh ↗ Sprinz-Nelson syndrome ↗ SPS ↗ SQTS ↗ Squamous cell carcinoma of head and neck ↗ Squamous cell carcinoma of the corpus uteri ↗ SRD5A3-CDG ↗ SREAT ↗ SSPE ↗ Stalker-Chitayat syndrome ↗ Stampe-Sorensen syndrome ↗ Stanescu osteosclerosis ↗ Stapedo-vestibular ankylosis ↗ Stapes ankylosis with broad thumbs and toes ↗ Staphylococcal necrotizing pneumonia ↗ Staphylococcal scarlet fever ↗ Staphylococcal toxic shock syndrome ↗ STAR deficiency ↗ Stargardt disease ↗ Stark-Kaeser syndrome ↗ STAR syndrome ↗ Steatocystoma multiplex - natal teeth ↗ Steele-Richardson-Olszewski disease ↗ Steely hair disease ↗ Steely hair syndrome ↗ Steinert disease ↗ Steinert myotonic dystrophy ↗ Steinfeld syndrome ↗ Stem cell leukemia/lymphoma ↗ Stem cell transplantation ↗ Stenosis and/or thrombosis of fistula in hemodialysis ↗ Stenosis in synthetic grafts used in hemodialysis ↗ Stenosis or atrophy of the coronary ostium ↗ Sternal cleft ↗ Sternal malformation - vascular dysplasia ↗ Stern-Lubinsky-Durrie syndrome ↗ Sternum bifidum ↗ Steroid dehydrogenase deficiency - dental anomalies ↗ Steroid-responsive encephalopathy associated with autoimmune thyroiditis ↗ Steroid-sensitive MCNS ↗ Steroid sulfatase deficiency ↗ Sterol 27-hydroxylase deficiency ↗ Sterol C5-desaturase deficiency ↗ Sterol-delta8-isomerase deficiency ↗ Stevens-Johnson syndrome ↗ Stickler syndrome ↗ Stickler syndrome, nonocular type ↗ Stickler syndrome type 1 ↗ Stickler syndrome type 2 ↗ Stickler syndrome type 3 ↗ Stickler syndrome type 4 ↗ Stiff baby syndrome ↗ Stiff-man syndrome ↗ Stiff person syndrome ↗ Stiff skin syndrome ↗ Still disease ↗ Stimmler syndrome ↗ St Louis encephalitis ↗ Stoelinga-de Koomen-Davis syndrome ↗ Stoll-Alembik-Finck syndrome ↗ Stoll-Géraudel-Chauvin syndrome ↗ Stoll-Kieny-Dott syndrome ↗ Stoll-Levy-Francfort syndrome ↗ Stomach cancer ↗ Stomatin deficient cryohydrocytosis - intellectual deficit - seizures - cataracts - hepatosplenomegaly ↗ Stormorken-Sjaastad-Langslet syndrome ↗ Straddling and/or overriding mitral valve ↗ Straddling or overriding tricuspid valve ↗ Stratton-Garcia-Young syndrome ↗ Stratton-Parker syndrome ↗ Streptobacillary rat-bite fever ↗ Streptococcal toxic-shock syndrome ↗ Stress cardiomyopathy ↗ Stress erythrocytosis ↗ Stress polycythemia ↗ Striatonigral degeneration ↗ Stromal keratitis ↗ Stromal sarcoma of the corpus uteri ↗ Strumpell disease ↗ Strumpell-Lorrain disease ↗ Stuart-Prower factor deficiency ↗ Stuccokeratosis ↗ Sturge-Weber syndrome ↗ Stuve-Wiedemann dysplasia ↗ Stuve-Wiedemann syndrome ↗ Suarez-Stickler syndrome ↗ Subacute angiohypertrophic myelomalacia ↗ Subacute ascending necrotizing myelitis ↗ Subacute cutaneous lupus erythematosus ↗ Subacute inclusion body encephalitis ↗ Subacute inflammatory demyelinating polyneuropathy ↗ Subacute inflammatory demyelinating polyradiculoneuropathy ↗ Subacute myeloid leukemia ↗ Subacute necrotizing myelitis ↗ Subacute sclerosing leukoencephalitis ↗ Subacute sclerosing panencephalitis ↗ Subacute spongiform encephalopathy, Gerstmann-Straussler type ↗ Subaortic course of brachiocephalic vein ↗ Subaortic course of innominate vein ↗ Subaortic stenosis - short stature ↗ Subcorneal pustular dermatosis ↗ Subcortical band heterotopia ↗ Sub-cortical nodular heterotopia ↗ Subcutaneous panniculitis-like T-cell lymphoma ↗ Subependymal giant cell astrocytoma ↗ Subependymal nodular heterotopia ↗ Subependymoma ↗ Subepithelial mucinous corneal dystrophy ↗ Submucosal cleft palate ↗ Subpulmonary stenosis ↗ Subtelomeric 1p36 deletion ↗ Subtelomeric deletion 13q34 ↗ Subtotal septate uterus ↗ Succinic acidemia ↗ Succinic semialdehyde dehydrogenase deficiency ↗ Succinyl-CoA acetoacetate transferase deficiency ↗ Sudanophilic leukodystrophy, Paelizeus-Merzbacher type ↗ Sudden infant death - dysgenesis of the testes ↗ Sudden unexplained nocturnal death syndrome ↗ Sugarman syndrome ↗ Sujansky-Leonard syndrome ↗ Sulfite oxidase deficiency due to molybdenum cofactor deficiency ↗ Sulfocysteinuria ↗ Summerskill-Walshe-Tygstrup syndrome ↗ Summertime actinic lichenoid eruption ↗ Summitt syndrome ↗ SUNCT syndrome ↗ SUNDS ↗ Superficial epidermolytic ichthyosis ↗ Superficial lymphangioma ↗ Superficial lymphatic malformation ↗ Superficial pemphigus ↗ Superficial siderosis ↗ Superior limbic keratoconjunctivitis ↗ Supernumerary breasts ↗ Supernumerary der(22) syndrome ↗ Supernumerary nostril ↗ Supravalvar aortic stenosis ↗ Supravalvular aortic stenosis ↗ Supravalvular pulmonary stenosis ↗ Susac syndrome ↗ Susceptibility to chronic infection by Epstein-Barr virus ↗ Susceptibility to respiratory infections associated with CD8alpha chain mutation ↗ SVAS ↗ Sveinsson chorioretinal atrophy ↗ Sweet syndrome ↗ Swift disease ↗ Swift-Feer disease ↗ Swyer syndrome ↗ Sxt-HUS ↗ Symbrachydactyly of hands and feet ↗ Symmetrical thalamic calcifications ↗ Sympathetic ophthalmia ↗ Sympathetic uveitis ↗ Sympathoblastoma ↗ Symphalangism - brachydactyly ↗ Symphalangism, Cushing type ↗ Symphalangism with multiple anomalies of hands and feet ↗ Symptomatic form of Coffin-Lowry syndrome in female carriers ↗ Symptomatic form of hemophilia A in female carriers ↗ Symptomatic form of hemophilia B in female carriers ↗ Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers ↗ Synaptic congenital myasthenic syndromes ↗ Syncopal paroxysmal tachycardia ↗ Syncopal tachyarythmia ↗ Syndactyly - ectodermal dysplasia - cleft/lip palate ↗ Syndactyly, Malik-Percin type ↗ Syndactyly of fingers 4 and 5 ↗ Syndactyly-polydactyly-ear lobe syndrome ↗ Syndactyly - preaxial polydactyly - sternal deformity ↗ Syndactyly - telecanthus - anogenital and renal malformations ↗ Syndactyly type 1 ↗ Syndactyly type 1 - microcephaly - intellectual deficit ↗ Syndactyly type 2 ↗ Syndactyly type 3 ↗ Syndactyly type 4 ↗ Syndactyly type 5 ↗ Syndactyly type 9 ↗ Syndesmodysplasic dwarfism ↗ Syndromatic diarrhea ↗ Syndromic bile duct paucity ↗ Syndromic bile duct paucity due to a JAG1 point mutation ↗ Syndromic bile duct paucity due to a NOTCH2 point mutation ↗ Syndromic bile duct paucity due to monosomy 20p12 ↗ Syndromic diarrhea ↗ Syndromic microphthalmia/anophthalmia due to OTX2 mutation ↗ Syndromic microphthalmia type 1 ↗ Syndromic microphthalmia type 10 ↗ Syndromic microphthalmia type 2 ↗ Syndromic microphthalmia type 3 ↗ Syndromic microphthalmia type 4 ↗ Syndromic microphthalmia type 5 ↗ Syndromic microphthalmia type 6 ↗ Syndromic microphthalmia type 7 ↗ Syndromic microphthalmia type 8 ↗ Syndromic microphthalmia type 9 ↗ Syndromic moyamoya disease ↗ Syndromic multisystem autoimmune disease due to Itch deficiency ↗ Syndromic optic nerve hypoplasia ↗ Syndromic orbital border hypoplasia ↗ Syndromic recessive X-linked ichthyosis ↗ Syndromic RXLI ↗ Syndromic X-linked ichthyosis ↗ Syndromic X-linked intellectual deficit 7 ↗ Syndromic X-linked intellectual deficit due to JARID1C mutation ↗ Syndromic X-linked intellectual deficit type 10 ↗ Syndromic X-linked intellectual deficit type 11 ↗ Syngnathia - cleft palate ↗ Syngnathia multiple anomalies ↗ Synostosis - microcephaly - scoliosis ↗ Synostotic plagiocephaly ↗ Synovialosarcoma ↗ Synovitis - acne - pustulosis - hyperostosis - osteitis ↗ Synpolydactyly ↗ Synspondylism ↗ Syntelencephaly ↗ Syringocystadenoma papilliferum ↗ Syringomyelia ↗ Systemic arteriovenous fistula ↗ Systemic mastocytosis ↗ Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease ↗ Systemic monochloroacetate poisoning ↗ Systemic polyarthritis ↗ Systemic scleroderma ↗ Systemic sclerosis ↗ Systemic sclerosis sine scleroderma ↗